ZNG1E

protein-coding

Zn regulated GTPase metalloprotein activator 1E

Gene summary

Predicted to enable GTPase activity; zinc chaperone activity; and zinc ion binding activity. Predicted to be involved in protein maturation. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

CBWD5

MANE transcript

NM_001330668.2

Inheritance

—

ClinVar variants

U:15B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.79

Max pathogenic AF

—

Genomic locus

chr9:65,668,805-65,734,041

External References & Databases

Ensembl (ENSG00000147996)

Transcript & Mutation Effects

hg38 • Region Span ~65.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNG1E variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 17

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001330668.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			15 clinvar	2 clinvar		17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	15	3	0	18

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 106 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001330668.2	RefSeq	NP_001317597.1	15	MANE Select
ENST00000382405.8	Ensembl	ENSP00000371842.3	15	MANE Select
NM_001024916.4	RefSeq	NP_001020087.2	13	Standard
NM_001286835.2	RefSeq	NP_001273764.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

ATP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377395
Coding exons: 13
Length: 65237
Individuals with no LoFs: 125143
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125145
p: 0.00000799

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.210	25	22.2	1.13	0.00000101	2234
Missense (PolyPhen)		8	8.4048	0.95184		591
Synonymous	0.236	9	9.95	0.905	5.81e-7	606
Loss of Function	-1.10	4	2.23	1.79	9.18e-8	283

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000066	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0951

Essentials

Essential (CRISPR): E
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.312

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium